Polygenic embryo screening: patient interest and clinician reservations

Polygenic embryo screening (PES) – also known as preimplantation genetic testing for polygenic conditions and traits (PGT-P) – differs significantly from preimplantation genetic testing of embryos for aneuploidies or monogenic conditions in its capacity, limitations, and ethical implications. However, given limited regulations in the U.S., PES is commercially available, despite a lack of substantial research on the perspectives of key stakeholders, like clinicians and patients. This qualitative study investigates the perspectives of reproductive endocrinology and infertility specialists (REIs) as well as those of in vitro fertilization (IVF) patients regarding PES. Using semi-structured interviews, we asked individual U.S.-based REIs and IVF patients about their interest in, uses for, and concerns about PES. Interviews were thematically analyzed. Theoretical saturation, the stage at which collection of data no longer yields novel themes, was reached by interviewing 27 REIs and 26 IVF patients. Both REIs and IVF patients perceived value in screening embryos for polygenic health conditions (such as schizophrenia and cancer). However, with respect to screening embryos for polygenic traits (such as height or intelligence), often REIs expressed opposition, largely viewing it as external to their clinical roles, while IVF patients indicated ambivalence by noting personal disinterest yet acceptance of others’ reproductive autonomy to use it. Though many IVF patients were hypothetically interested in utilizing PES for informative and selection purposes, REIs held multiple reservations about offering PES outside a research setting. These included concerns over biases, lack of data (about potential antagonistic pleiotropy and validation from prospective studies), and the probabilistic nature of results that will complicate counselling and potentially harm patients by causing confusion and/or anxiety. REIs repeatedly expressed the need for professional guidance on PES. Overlaps and gaps currently exist between patient and clinician perspectives toward PES. Though both sets of stakeholders valued the potential to screen embryos for polygenic health conditions, opinions diverged when it came to screening embryos for polygenic traits. Generally, IVF patients expressed enthusiasm for PES, while REIs urged prudence. These perspectives are important to incorporate and address in the development of professional guidance on PES that REIs urgently seek.